Canonical Allele Identifier: CA413715802

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683391G>A , CM000685.2:g.77683391G>A	GRCh38
NC_000023.10:g.76938883G>A , CM000685.1:g.76938883G>A	GRCh37
NC_000023.9:g.76825539G>A	NCBI36
NG_008838.2:g.107831C>T
NG_008838.3:g.107879C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1865C>T MANE Select	NP_000480.3:p.Pro622Leu
ENST00000373344.11:c.1865C>T MANE Select	ENSP00000362441.4:p.Pro622Leu
NM_000489.4:c.1865C>T	NP_000480.3:p.Pro622Leu
NM_000489.5:c.1865C>T	NP_000480.3:p.Pro622Leu
NM_138270.3:c.1751C>T	NP_612114.2:p.Pro584Leu
NM_138270.4:c.1751C>T	NP_612114.2:p.Pro584Leu
NM_138270.5:c.1751C>T	NP_612114.2:p.Pro584Leu
ENST00000373344.9:c.1865C>T	ENSP00000362441.4:p.Pro622Leu
ENST00000395603.7:c.1751C>T	ENSP00000378967.3:p.Pro584Leu
ENST00000480283.5:c.*1493C>T	ENSP00000480196.1:n.*1493C>T
ENST00000624032.3:c.1778C>T	ENSP00000485253.1:p.Pro593Leu
ENST00000624166.3:c.1661C>T	ENSP00000485103.1:p.Pro554Leu
XM_005262153.3:c.1862C>T	XP_005262210.2:p.Pro621Leu
XM_005262153.5:c.1862C>T	XP_005262210.2:p.Pro621Leu
XM_005262154.3:c.1778C>T	XP_005262211.2:p.Pro593Leu
XM_005262154.5:c.1778C>T	XP_005262211.2:p.Pro593Leu
XM_005262155.3:c.1748C>T	XP_005262212.2:p.Pro583Leu
XM_005262155.4:c.1748C>T	XP_005262212.2:p.Pro583Leu
XM_005262156.3:c.1700C>T	XP_005262213.2:p.Pro567Leu
XM_005262156.4:c.1700C>T	XP_005262213.2:p.Pro567Leu
XM_005262157.3:c.1661C>T	XP_005262214.2:p.Pro554Leu
XM_005262157.5:c.1661C>T	XP_005262214.2:p.Pro554Leu
XM_006724666.2:c.1748C>T	XP_006724729.1:p.Pro583Leu
XM_006724666.4:c.1748C>T	XP_006724729.1:p.Pro583Leu
XM_006724667.2:c.1586C>T	XP_006724730.1:p.Pro529Leu
XM_006724667.3:c.1586C>T	XP_006724730.1:p.Pro529Leu
XM_006724668.2:c.1865C>T	XP_006724731.1:p.Pro622Leu
XM_006724668.3:c.1865C>T	XP_006724731.1:p.Pro622Leu
XM_017029601.2:c.1775C>T	XP_016885090.1:p.Pro592Leu
XM_017029602.1:c.1745C>T	XP_016885091.1:p.Pro582Leu
XM_017029603.1:c.1697C>T	XP_016885092.1:p.Pro566Leu
XM_017029604.2:c.1664C>T	XP_016885093.1:p.Pro555Leu
XM_017029605.1:c.1661C>T	XP_016885094.1:p.Pro554Leu
XM_017029606.2:c.1634C>T	XP_016885095.1:p.Pro545Leu
XM_017029607.2:c.1631C>T	XP_016885096.1:p.Pro544Leu
XM_017029608.2:c.1583C>T	XP_016885097.1:p.Pro528Leu
XM_017029609.1:c.1547C>T	XP_016885098.1:p.Pro516Leu
XM_017029610.1:c.1544C>T	XP_016885099.1:p.Pro515Leu
XM_017029611.1:c.1499C>T	XP_016885100.1:p.Pro500Leu
XR_001755700.2:n.2090C>T
XR_938400.1:n.2133C>T